Variant report

Variant	nsv556230
Chromosome Location	chr11:106676942-106704250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:106679881-106680164	IMR90	lung:	n/a	chr11:106679998-106680007 chr11:106679998-106680007 chr11:106679997-106680008 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679996-106680007
2	CEBPB	chr11:106679888-106680075	K562	blood:	n/a	chr11:106679998-106680007 chr11:106679998-106680007 chr11:106679997-106680008 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679996-106680007
3	CEBPB	chr11:106679949-106680127	H1-hESC	embryonic stem cell:	n/a	chr11:106679998-106680007 chr11:106679998-106680007 chr11:106679997-106680008 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679996-106680007
4	CEBPB	chr11:106679888-106680162	HepG2	liver:	n/a	chr11:106679998-106680007 chr11:106679998-106680007 chr11:106679997-106680008 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679998-106680007 chr11:106679996-106680009 chr11:106679996-106680007
5	CTCF	chr11:106698515-106698713	A549	lung:	n/a	n/a
6	CTCF	chr11:106698521-106698704	Fibrobl	skin:	n/a	n/a
7	CTCF	chr11:106697537-106697564	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:106698675-106698680	GM12891	blood:	n/a	n/a
9	CTCF	chr11:106698556-106698658	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:106698586-106698653	GM12891	blood:	n/a	n/a
11	CTCF	chr11:106698540-106698651	GM12892	blood:	n/a	n/a
12	CTCF	chr11:106698527-106698701	Gliobla	brain:	n/a	n/a
13	CTCF	chr11:106698545-106698682	A549	lung:	n/a	n/a
14	CTCF	chr11:106698550-106698643	GM19238	blood:	n/a	n/a
15	CTCF	chr11:106698031-106698066	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr11:106698534-106698702	K562	blood:	n/a	n/a
17	CTCF	chr11:106698539-106698674	A549	lung:	n/a	n/a
18	CTCF	chr11:106698556-106698653	GM19240	blood:	n/a	n/a
19	CTCF	chr11:106698571-106698660	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:106698548-106698669	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:106698552-106698707	A549	lung:	n/a	n/a
22	CTCF	chr11:106698601-106698650	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:106698527-106698655	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:106698578-106698626	ProgFib	skin:	n/a	n/a
25	GABPA	chr11:106698533-106698723	HepG2	liver:	n/a	n/a
26	GABPA	chr11:106698572-106698726	HepG2	liver:	n/a	n/a
27	GABPA	chr11:106698616-106698776	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr11:106698515-106698755	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr11:106698545-106698730	GM12878	blood:	n/a	n/a
30	GATA3	chr11:106684029-106684184	SH-SY5Y	brain:	n/a	n/a
31	HEY1	chr11:106698449-106698764	HepG2	liver:	n/a	n/a
32	JUN	chr11:106691779-106692083	K562	blood:	n/a	n/a
33	JUND	chr11:106680686-106680944	HepG2	liver:	n/a	n/a
34	MAFK	chr11:106689343-106689607	HepG2	liver:	n/a	n/a
35	MAX	chr11:106701983-106702246	NB4	blood:	n/a	chr11:106702100-106702116 chr11:106702107-106702117 chr11:106702108-106702119 chr11:106702109-106702119 chr11:106702110-106702117 chr11:106702109-106702118
36	MYC	chr11:106697472-106697505	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:106698672-106698711	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:106692005-106692357	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr11:106698515-106698736	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:106681064-106681169	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:106698605-106698651	Gliobla	brain:	n/a	n/a
42	POLR2A	chr11:106698465-106698808	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:106698486-106698732	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:106698588-106698705	A549	lung:	n/a	n/a
45	POLR2A	chr11:106677306-106677455	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:106696503-106696645	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:106698494-106698722	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:106698484-106698657	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:106682843-106682931	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:106698521-106698710	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:106698622-106698672	A549	lung:	n/a
2	chr11:106698562-106698612	HNPCEpiC	eye:	n/a
3	chr11:106698694-106698744	GM12892	blood:	n/a
4	chr11:106698562-106698612	MCF-7	breast:	n/a
5	chr11:106698622-106698672	ProgFib	skin:	n/a
6	chr11:106698562-106698612	H1-hESC	embryonic stem cell:	embryo
7	chr11:106698562-106698612	GM12892	blood:	n/a
8	chr11:106698562-106698612	GM12878	blood:	n/a
9	chr11:106698622-106698672	HepG2	liver:	n/a
10	chr11:106698562-106698612	NHDF-neo	bronchial:	n/a
11	chr11:106698562-106698612	RPTEC	kidney:	n/a
12	chr11:106698622-106698672	SK-N-SH	brain:	n/a
13	chr11:106698694-106698744	NT2-D1	testis:	n/a
14	chr11:106698694-106698744	BE2_C	brain:	n/a
15	chr11:106698562-106698612	U87	brain:	n/a
16	chr11:106698694-106698744	HCT-116	colon:	n/a
17	chr11:106698622-106698672	NB4	blood:	n/a
18	chr11:106698562-106698612	HEK293	kidney:	embryo
19	chr11:106698562-106698612	PANC-1	pancreas:	n/a
20	chr11:106698622-106698672	MCF10A-Er-Src	breast:	n/a
21	chr11:106698562-106698612	AG09309	skin:	n/a
22	chr11:106698562-106698612	SKMC	muscle:	n/a
23	chr11:106698622-106698672	Caco-2	colon:	n/a
24	chr11:106698694-106698744	HRPEpiC	eye:	n/a
25	chr11:106698622-106698672	HMEC	breast:	n/a
26	chr11:106698622-106698672	HCF	heart:	n/a
27	chr11:106698694-106698744	HRE	kidney:	n/a
28	chr11:106698694-106698744	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:106698562-106698612	PrEC	prostate:	n/a
30	chr11:106698694-106698744	AG09309	skin:	n/a
31	chr11:106698562-106698612	HCT-116	colon:	n/a
32	chr11:106698562-106698612	HCPEpiC	choroid plexus:	n/a
33	chr11:106698694-106698744	CMK	blood:	n/a
34	chr11:106698622-106698672	NHDF-neo	bronchial:	n/a
35	chr11:106698562-106698612	CMK	blood:	n/a
36	chr11:106698694-106698744	AG04450	lung:	fetal
37	chr11:106698562-106698612	NT2-D1	testis:	n/a
38	chr11:106698694-106698744	HCF	heart:	n/a
39	chr11:106698562-106698612	HEEpiC	esophagus:	n/a
40	chr11:106698694-106698744	NHBE	bronchial:	n/a
41	chr11:106698622-106698672	SAEC	small airway:	n/a
42	chr11:106698562-106698612	SAEC	small airway:	n/a
43	chr11:106698694-106698744	SKMC	muscle:	n/a
44	chr11:106698694-106698744	PFSK-1	brain:	n/a
45	chr11:106698622-106698672	RPTEC	kidney:	n/a
46	chr11:106698562-106698612	PFSK-1	brain:	n/a
47	chr11:106698622-106698672	GM19239	blood:	n/a
48	chr11:106698622-106698672	HCT-116	colon:	n/a
49	chr11:106698694-106698744	AG09319	gingival:	n/a
50	chr11:106698562-106698612	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:106682914..106685175-chrX:26083475..26086337,2	MCF-7	breast:
2	chr11:106698243..106699219-chr12:21590223..21591148,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000264542	TF binding region
ENSG00000213252	TF binding region
ENSG00000264542	CpG island
ENSG00000213252	CpG island
ENSG00000121350	chromatin interactions

Extended variants
information (count: 898 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:898 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2171460	chr11:106676942-106676943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs207472317	chr11:106676946-106676947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575525991	chr11:106676953-106676954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545778222	chr11:106676955-106676956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192439146	chr11:106676999-106677000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561456876	chr11:106677014-106677015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375582831	chr11:106677055-106677056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374274854	chr11:106677057-106677058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73551838	chr11:106677074-106677075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184793896	chr11:106677076-106677077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554726618	chr11:106679208-106679209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79180626	chr11:106679274-106679275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180921909	chr11:106679279-106679280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527620632	chr11:106679292-106679293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186338090	chr11:106679322-106679323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141379469	chr11:106679346-106679347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537664899	chr11:106679377-106679378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200633686	chr11:106679380-106679381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66477688	chr11:106679381-106679382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56797558	chr11:106679410-106679411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539098021	chr11:106679518-106679519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553921446	chr11:106679552-106679553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61905200	chr11:106679559-106679560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188680729	chr11:106679600-106679601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542998732	chr11:106679631-106679632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546152455	chr11:106679699-106679700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10890598	chr11:106679714-106679715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528634877	chr11:106679738-106679739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551841652	chr11:106679747-106679748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548764348	chr11:106679751-106679752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2029302	chr11:106679767-106679768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532932418	chr11:106679782-106679783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545077950	chr11:106679870-106679871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2029303	chr11:106679878-106679879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550582401	chr11:106679931-106679932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568665691	chr11:106679943-106679944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370870167	chr11:106679954-106679955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11211920	chr11:106679962-106679963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539444556	chr11:106679985-106679986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79017860	chr11:106680003-106680004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76974636	chr11:106680011-106680012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113034019	chr11:106680049-106680050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569528344	chr11:106680083-106680084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570142651	chr11:106680102-106680103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371474753	chr11:106680130-106680131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546544448	chr11:106680211-106680212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556478950	chr11:106680358-106680359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571414730	chr11:106680443-106680444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538417603	chr11:106680504-106680505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150709428	chr11:106680508-106680509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106676800-106677000	Enhancers	Fetal Heart	heart
2	chr11:106676800-106677200	Enhancers	Fetal Brain Male	brain
3	chr11:106679200-106692200	Weak transcription	Ovary	ovary
4	chr11:106680200-106680800	Weak transcription	Pancreas	Pancrea
5	chr11:106680800-106681000	Genic enhancers	Pancreas	Pancrea
6	chr11:106681000-106686400	Weak transcription	Pancreas	Pancrea
7	chr11:106686400-106686600	ZNF genes & repeats	Pancreas	Pancrea
8	chr11:106688000-106689600	Enhancers	Fetal Heart	heart
9	chr11:106689600-106699800	Weak transcription	Fetal Heart	heart
10	chr11:106691200-106692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:106691200-106693600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:106691200-106693600	Enhancers	Fetal Lung	lung
13	chr11:106691400-106692800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:106691400-106694600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:106691800-106692600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:106691800-106693400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:106692000-106692400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:106692000-106692400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:106692000-106692600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:106692000-106693000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:106692200-106692400	Enhancers	Ovary	ovary
22	chr11:106692200-106692600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:106692400-106692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:106692800-106693000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:106692800-106693400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:106693000-106693400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:106693400-106694200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:106693400-106694400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:106694200-106694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:106694400-106694600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:106694600-106699200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:106699200-106699600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:106699800-106700400	Enhancers	Fetal Heart	heart
34	chr11:106700400-106705200	Weak transcription	Fetal Heart	heart

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